He was diagnosed with Bainbridge-Ropers syndrome (BRS), a rare genetic motor planning disorder. Objective: To investigate the clinical manifestations and genetic features of a child with Bainbridge-Ropers syndrome caused by ASXL3 gene variation and review the literature. I know it is some type of gene mutation and I found lots of information never could really decide the best code to be used. Thank you in advance for your generous support, Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. In 2013, Bainbridge-Ropers syndrome (MIM #615485) was described in patients with severe global developmental delay, postnatal microcephaly and feeding problems due to heterozygous loss of function variants in the ASXL3 gene. (It is often impossible to tell exactly when a de novo mutation happened.) Clinical application of whole-exome sequencing across clinical indications. Three patients had a marfanoid habitus with arachnodactyly, tall stature, pes planus, and scoliosis. [PubMed: 26647312, related citations] Synonym (s): BOS syndrome Bohring syndrome C-like syndrome Oberklaid-Danks syndrome Opitz trigonocephaly-like syndrome Prevalence: <1 / 1 000 000 Inheritance: Autosomal dominant Age of onset: Antenatal, Neonatal ICD-10: Q87.8 OMIM: 605039 UMLS: C0796232 MeSH: - GARD: 10140 MedDRA: - Summary Epidemiology Ada Hamosh, MD, MPH Genet. I know it is some type of gene mutation and I found lots of information never could really decide the best code to be used. Q79.8 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. Scientific Director, OMIM. 11 Q87.89 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. ASXL3-related syndrome is also known as Bainbridge-Ropers syndrome or BRPS. Among their cohort, Balasubramanian et al. (2013) reported 4 individuals from 4 unrelated families with phenotypic features similar to those of Bohring-Opitz syndrome (605039) but with no specific recognizable syndromic diagnosis. New and Revised ICD-10-CM Codes for 2023. This chromosomal change is sometimes written as 4p-. Phone: 203-263-9938 component of our efforts to ensure long-term funding to provide you the Background Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. These 2022 ICD-10-CM codes are to be used for discharges occurring from October 1, 2021 through September 30, 2022 and for patient encounters occurring from October 1, 2021 through September 30, 2022. Fax: 203-263-9938, Washington, DC Office Leos Lighthouse raises funds for research and hosts a family meetup. NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, Med Sci Sports. ASXL3 is one of approximately 20,000-25,000 genes that . Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. Phone: 617-249-7300, Danbury, CT office A few patients had nonspecific minor abnormalities on brain imaging. 2. Patient organizations can help patients and families connect. This free tool is designed to help billers and coders navigate the new ICD-10-CM code set. This by far is I find is one of the hardest things I have tried to find correct code for. 58 Srivastava et al. The fourth subject also had anteverted nares but had less severe psychomotor retardation and normal growth. Read more about what causes ASXL-related disorders. A syndrome characterized by psychomotor retardation, feeding problems, severe postnatal growth retardation in some patients, arched eyebrows, anteverted nares, and ulnar deviation of the hands. [PubMed: 28100473, related citations] (2013) identified a de novo heterozygous 4-bp deletion in the ASXL3 gene resulting in frameshift and premature termination (g.31319343_31319346delACAG, Thr659FsTer41). This article about a disease, disorder, or medical condition is a stub. Bainbridge, M. N., Hu, H., Muzny, D. M., Musante, L., Lupski, J. R., Graham, B. H., Chen, W., Gripp, K. W., Jenny, K., Wienker, T. F., Yang, Y., Sutton, V. R., Gibbs, R. A., Ropers, H. H. Unfortunately, it is not free to produce. Contreras-Capetillo SNPinto-Escalante D. Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. J. Med. P.O. Wikipedia: Skeletal abnormalities, such as a "barrel chest", extremely high arched palate, This page was last edited on 13 February 2023, at 07:14. I would love to see what help anyone can provide. This is the American ICD-10-CM version of Q79.8 - other international versions of ICD-10 Q79.8 may differ. [Full Text]. Using whole-exome and whole-genome sequencing, Bainbridge et al. You are using an out of date browser. View CNBC interview with NORDs Peter Saltonstall and Boston Childrens Dr. Olaf Bodamer emphasizing the importance of investment in rare diseases. our revenue stream. [Full Text: https://doi.org/10.1093/hmg/ddv499]. Large-scale discovery of novel genetic causes of developmental disorders. Disease Overview Summary Bohring-Opitz syndrome (BOS) is a rare, multiple anomaly syndrome that most often is evident at birth (congenital) and affects an individual's growth, development, and variable organ-systems. Expert curators Bristol Rabbit Pain Scale (BRPS): clinical utility, validity and reliability. Less than 100 cases have been reported in literature and databases to date. Breath-holding spells with choreathetoid movements have been previously described. Downs SM, van Dyck PC, Rinaldo P, et al. The 2022 ICD-10-CM files below contain information on the ICD-10-CM updates for FY 2022. MR spectroscopy was normal. 5. Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype. accessible. All had delayed psychomotor development with moderate to profound intellectual disability and delayed walking. Individuals with this condition have intellectual disability, severe feeding problems, motor skill issues, and increased mortality. 5: 11, 2013. It was firstly reported in 2013 by Bainbridge . Most also had autistic features and 11 were in a special needs school. Tax ID: 82-3890665, 2023 ASXL Rare Research Endowment Foundation, Medical disclaimer Privacy policy Contact, Read more about what causes ASXL-related disorders, Bainbridge-Ropers Syndrome and ASXL3 Families support group. Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene.It is characterized by lower than average IQ (typically about 85), problematic impulsive behavior (such as pyromania, hypersexuality and violence), sleep disorders and mood swings. BRS is a result of an ASXL3 gene mutation, located on chromosome 18. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature . I would love to see what help anyone can provide. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Copyright 2023 NORD National Organization for Rare Disorders, Inc. All rights reserved. Family finds answers, hope after discovery of rare genetic disorder. In this context, annotation back-references refer to codes that contain: "Present On Admission" is defined as present at the time the order for inpatient admission occurs conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery, are considered POA. References/Resources It was identified in fourteen males from one family in 1993. Bainbridge-Ropers syndrome (BRPS; OMIM:615485) was first described in 2013 and is characterized by failure to thrive, feeding problems, hypotonia, intellectual disability (ID), autism, postnatal growth retardation, abnormal facial features with arched eyebrows, anteverted nares and delays in language acquisition [ 1 ]. Its our mission to change that. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. An autosomal recessive disorder characterized by retinitis pigmentosa; polydactyly; obesity; mental retardation; hypogenitalism; renal dysplasia; and short stature. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that, for each pregnancy, there is 50% risk of passing the mutation to offspring. Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. Patient organizations are available to help find a specialist, or advocacy and support for this specific disease. Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care. [PubMed: 23383720] Hum. ICD-10 Basics Check out these videos to learn more about ICD-10. [Full Text: https://doi.org/10.1136/jmedgenet-2016-104360], Srivastava, A., Ritesh, K. C., Tsan, Y.-C., Liao, R., Su, F., Cao, X., Hannibal, M. C., Keegan, C. E., Chinnaiyan, A. M., Martin, D. M., Bielas, S. L. A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11. Intellectual disability ranges from moderate to severe. Copyright 1996-2023 , Weizmann Institute of Science. Mar 31, 2016. A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has material basis in heterozygous mutation in the ASXL3 gene on chromosome 18q12. Decoding the byssus fabrication by spatiotemporal secretome analysis of scallop foot. Case report : a novel ASXL3 gene variant in a Sudanese boy. National Center for Advancing Translational Sciences. [PubMed: 28100473] 1900 Crown Colony Drive Only 1 subject had brain MRI, which showed global mild white matter volume loss, secondary brainstem hypoplasia, and bilateral hypoplasia/dysplasia of cerebellar tonsils. For all other comments, please send your remarks via contact us. Molec. Comorbid Psychiatric Aspects of Bainbridge-Ropers Syndrome. Whole-Exome Sequencing Identifies Novel Recurrent Somatic Mutations in Sporadic Parathyroid Adenomas. Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. For Patients & Caregivers For Organizations For Clinicians & Researchers Sign Up for NORD News National Organization for Rare Disorders (NORD) 1900 Crown Colony Drive Suite 310 Quincy, MA 02169 Phone: 617-249-7300 Other Locations: Danbury, CT office 55 Kenosia Avenue Box 4662Portland, ME 04112U.S.A.info@arrefoundation.org, We are recognized in the United States as a 501(c)3 nonprofit organization. [Full Text], Srivastava, A., Ritesh, K. C., Tsan, Y.-C., Liao, R., Su, F., Cao, X., Hannibal, M. C., Keegan, C. E., Chinnaiyan, A. M., Martin, D. M., Bielas, S. L. Brain imaging, performed in 2 patients, showed loss of white matter; 1 patient had a thin corpus callosum. Audiology; Speech-Language Pathology; ICD-10-CM Code Lists (updated October 1, 2022) Audiology and SLP related disorders have been culled from approximately 68,000 codes into manageable, discipline-specific lists. Bainbridge-Ropers Syndrome is caused by a de novo (new) mutation of the ASXL3 gene. Millie McWilliams has Bainbridge-Ropers syndrome, in which she is missing two DNA bases in the ASXL3 gene. 57 Richards SACMG Laboratory Quality Assurance Committee. In this context, annotation back-references refer to codes that contain: "Present On Admission" is defined as present at the time the order for inpatient admission occurs conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery, are considered POA. Consult doctors, other trusted medical professionals, and patient organizations. These 2023 ICD-10-CM codes are to be used for discharges occurring from October 1, 2022 through September 30, 2023 and for patient encounters occurring from October 1, 2022 through September 30, 2023. About ASXL3/Bainbridge-Ropers Syndrome (BRS) Overview About Bainbridge-Ropers Syndrome is caused by a de novo (new) mutation of the ASXL3 gene. Fibroblasts derived from 1 of the patients with a frameshift mutation in the 5-prime cluster region (c.1448dupT; 615115.0005) showed about a 50% decrease in ASXL1 mRNA and protein levels, consistent with haploinsufficiency. The objective of this study is to describe the comorbid psychiatric aspects of BRPS. Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. (2017) noted that 5 of the identified mutations occurred within the original cluster region, whereas 7 occurred 3-prime to this region, suggesting a second cluster region between codons 1045 and 1444. Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease. [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Bainbridge-Ropers syndrome]. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Were funding research grants and we support the ASXL Patient Registry and Biobank. Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. Please join your colleagues by making a [PubMed: 23383720, images, related citations] Suite 500 Use ClincalTrials.gov button below to search for studies by disease, terms, or country. Stay Informed With NORDs Email Newsletter, Launching Registries & Natural History Studies, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome. (2013) clustered mainly within the 5-prime end of exon 11 between codons 404 and 659. Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT, Tomkins S. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. We hope you find it helpful, and thanks for stopping by! 55 Kenosia Avenue Bainbridge-Roper syndrome (BRS) - Bainbridge-Roper syndrome is a congenital and developmental disorder caused by mutations in the ASXL3 gene, similar to the gene that causes BOS. Note: Electronic Article. [Analysis of clinical feature and genetic variants in two Chinese pedigrees affected with Bainbridge-Ropers syndrome]. Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016). News. (2016) identified 3 de novo heterozygous frameshift or nonsense mutations in the ASXL1 gene (615115.0005-615115.0007). Most of the patients described so far had been confirmed by next generation sequencing techniques. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. The disorder is due to loss of function mutations in ASXL3 gene (18q12.1). A syndrome characterized mainly by obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism, and renal failure in fatal cases. 2022 Sep 29. doi: 10.1002/ajmg.a.62981. Symptoms: This section is currently in development. We dont know how many people have an accurate diagnosis. The documents contained in this web site are presented for information purposes only. Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes. There is significant variability in the severity of symptoms of people who have Bainbridge-Ropers Syndrome and we dont yet have a good understanding of why that is. A rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to severe intellectual disability and hypotonia. Bainbridge-Ropers syndrome (BRS; OMIM 615485) is characterized by failure to thrive, craniofacial defects, feeding problems, global developmental delay, hypotonia, intellectual disability and delays in language acquisition ( Bainbridge et al., 2013; Russell and Graham, 2013 ). information that you need at your fingertips. Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3. The syndrome is named after Matthew Bainbridge and H. Hilger Ropers, two doctors who described the similar clinical characteristics of people with a variation on the ASXL3 gene in 2013. They build public awareness of the disease and are a driving force behind research to improve patients' lives. Diagnosis is based on presentation of clinical features, and can be confirmed by genetic testing. Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. We estimate that there are approximately 150-200 people diagnosed in the world. We describe for the first time a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH) deficiency, recurrent ketotic . Currently GARD aims to provide the following information for this disease: This section is currently in development. National Center for Health Statistics - ICD-10-CM Fiscal Year: Select Fiscal Year: FY2023 - October 1, 2022 FY2022 - includes January 2022 Addenda FY2021 - includes January 2021 Addenda FY2020 - includes April 1, 2020 Addenda FY2019 - October 1, 2018 These cells showed significantly increased levels of H2AK119Ub1, indicating that this mutation disrupts the normal activity of the polycomb repressive deubiquitination (PR-DUB) complex, which functions to remove the monoubiquitin from lysine-119 of histone H2A (H2AK119Ub1), thus playing a role in chromatin remodeling and transcriptional regulation. The core mission of Leo's Lighthouse is to find an effective therapy, and eventually a cure, for Bainbridge-Ropers Syndrome (BRS). Other frequent gastrointestinal features include gastroesophageal reflux and constipation. Resource(s) for Medical Professionals and Scientists on This Disease: This information is currently in development. [citation needed], This condition was first described by Bainbridge et al in 2013.[2]. Treatment of Self-Injury in Bainbridge-Ropers Syndrome: Replication and Extensions of Behavioral Assessments. Changes in these genes are associated with Bohring-Opitz Syndrome, Shashi-Pena Syndrome, and Bainbridge-Ropers Syndrome. Read more about what causes ASXL-related disorders Donations are tax deductible to the fullest extent of the law. Hi, my name is Leo, and I have Bainbridge-Ropers Syndrome . 25: 597-608, 2016. OMIM: 57 Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016). Bainbridge-Ropers syndrome is inherited in an autosomal dominant manner. Unique, an organization that provides information on rare disorders, has a downloadable document about Bainbridge-Ropers Syndrome. Over 90% As germline mosaicism has been described, prenatal diagnosis may be considered where the pathogenic variant has previously been identified in a family member. The authors noted that the mutations reported by Bainbridge et al. The clinic also follows patients with other chromatin-related disorders including but not limited to Kabuki Syndrome, Rubinstein-Taybi Syndrome, Wolf-Hirschhorn Syndrome, Coffin-Siris Syndrome, and Nicolaides-Baraitser . Reference: Data from the Newborn Screening Codingand Terminology Guide is available here. When Della Calder was just one year old, Caitlin Calder noticed troubling issues with her daughter's early development. Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes. A number sign (#) is used with this entry because Bainbridge-Ropers syndrome (BRPS) is caused by heterozygous mutation in the ASXL3 gene (615115) on chromosome 18q12. Rare Diseases Resources for Refugees/Displaced Persons, section General Data Protection Regulation and data privacy (GDPR) and Confidentiality), Orphan designation(s) and orphan drug(s) (0). All Rights Reserved. [2], Genetic changes that are described as de novo (new) mutations can be either hereditary or somatic. -the traits caused by Millie's syndrome are Mendelian traits [citation needed], There is no currently known treatment or cure for this condition. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. (2017) identified 12 different de novo heterozygous nonsense or frameshift mutations in the ASXL3 gene (see, e.g., 615115.0006 and 615115.0008). GENECARDS SUITE PRODUCTS ARE FOR RESEARCH USE ONLY, DO NOT PROVIDE MEDICAL ADVICE AND ARE NOT FOR USE IN DIAGNOSTIC PROCEDURES. The MalaCards human disease database index: See all MalaCards categories (disease lists), Congenital malformations, deformations and chromosomal abnormalities, Other specified congenital malformation syndromes affecting multiple systems, Congenital malformation syndromes predominantly affecting facial appearance, congenital hemidysplasia with ichthyosiform erythroderma and limb defects, contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a, attention deficit-hyperactivity disorder 3, cerebellar atrophy, developmental delay, and seizures, epilepsy with generalized tonic-clonic seizures, core binding factor acute myeloid leukemia, congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, autosomal dominant intellectual developmental disorder, microcephaly 11, primary, autosomal recessive, microcephaly 5, primary, autosomal recessive, RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known, abnormal cerebral white matter morphology, Clinical Registry for ASXL-Related Disorders and Disorders of Chromatin Remodeling, Activator Of Transcription And Developmental Regulator AUTS2, O-Linked N-Acetylglucosamine (GlcNAc) Transferase, Progesterone Immunomodulatory Binding Factor 1, NM_030632.3(ASXL3):c.1210C>T (p.Gln404Ter), NM_030632.3(ASXL3):c.1396C>T (p.Gln466Ter), NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs), NM_030632.3(ASXL3):c.1422dup (p.Glu475Ter), NM_030632.3(ASXL3):c.1192_1195del (p.Thr398fs), NM_030632.3(ASXL3):c.1682C>A (p.Ser561Ter), NM_030632.3(ASXL3):c.1961dup (p.Ser654_Ser655insTer), NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter), NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter), NM_030632.3(ASXL3):c.3364C>T (p.Gln1122Ter), NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter), NM_030632.3(ASXL3):c.1448dup (p.Thr484fs), NM_030632.3(ASXL3):c.4144C>T (p.Gln1382Ter), NM_030632.3(ASXL3):c.1500del (p.Glu500fs), NM_030632.3(ASXL3):c.1351C>T (p.Gln451Ter), NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs), NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu), NM_030632.3(ASXL3):c.1884_1885del (p.Gly629fs), NM_030632.3(ASXL3):c.3330_3333dup (p.Ala1112fs), NM_030632.3(ASXL3):c.3494_3495del (p.Asn1164_Cys1165insTer), NM_030632.3(ASXL3):c.3827_3830dup (p.Asn1278fs), GRCh37/hg19 3p24.1-23(chr3:30863773-31433693)x1, NM_030632.3(ASXL3):c.4322C>G (p.Ser1441Ter), NM_030632.3(ASXL3):c.4164dup (p.Thr1389fs), NM_030632.3(ASXL3):c.1354del (p.Glu452fs), NM_030632.3(ASXL3):c.4211_4212del (p.Thr1404fs), NM_030632.3(ASXL3):c.1738G>T (p.Glu580Ter), NM_030632.3(ASXL3):c.4904dup (p.Gln1636fs), NM_030632.3(ASXL3):c.3964C>T (p.Gln1322Ter), NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter), NM_030632.3(ASXL3):c.1535T>A (p.Leu512Ter), NM_030632.3(ASXL3):c.1189C>T (p.Gln397Ter), NM_030632.3(ASXL3):c.4219_4220del (p.Leu1407fs), NM_030632.3(ASXL3):c.4087_4088delinsG (p.Met1363fs), NM_030632.3(ASXL3):c.1821del (p.Ala606_Cys607insTer), NM_030632.3(ASXL3):c.4509_4513dup (p.Val1505fs), NM_030632.3(ASXL3):c.3621dup (p.Pro1208fs), NM_030632.3(ASXL3):c.1444del (p.Ser482fs), NM_030632.3(ASXL3):c.3049del (p.Ser1017fs), NM_030632.3(ASXL3):c.5819del (p.Gly1940fs), NM_030632.3(ASXL3):c.1479_1480del (p.Pro494fs), NM_030632.3(ASXL3):c.1939dup (p.Thr647fs), NM_030632.3(ASXL3):c.1207C>T (p.Gln403Ter), NM_030632.3(ASXL3):c.3315_3318del (p.Thr1106fs), NM_030632.3(ASXL3):c.3137_3144del (p.Gly1046fs), NM_030632.3(ASXL3):c.1269C>A (p.Cys423Ter), NM_030632.3(ASXL3):c.1864dup (p.Cys622fs), NM_030632.3(ASXL3):c.4899T>A (p.Tyr1633Ter), positive regulation of transcription by RNA polymerase II, peroxisome proliferator activated receptor binding.

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